ABSTRACT
CASO CLÍNICO: Presentamos el caso de un paciente varón de 4 años de edad, remitido por endotropia congénita con limitación de abducción, tortícolis horizontal con fijación cruzada y escoliosis toraco-lumbar. El análisis genético del gen ROBO3 confirmó el diagnóstico de parálisis de la mirada horizontal y escoliosis progresiva (HGPPS). DISCUSIÓN. La HGPPS es una alteración infrecuente de la motilidad ocular, caracterizada por ausencia de movimientos conjugados horizontales y escoliosis progresiva de inicio precoz. Esta entidad debe ser considerada como parte del diagnóstico diferencial de la endotropia congénita con fijación cruzada e incapacidad de abducción
CASE REPORT: The case is presented on a 4-year-old child with congenital esotropia, limitation of abduction, cross-fixation, and thoracolumbar scoliosis. Genetic testing of ROBO3 gene confirmed the diagnosis of horizontal gaze palsy and scoliosis (HGPSS). DISCUSSION: HGPPS is a rare congenital disorder characterised by absence of conjugate horizontal eye movements and progressive scoliosis developed in childhood and adolescence. We highlight this motility disorder as a part of the differential diagnosis of early childhood esotropia with cross- fixation and limitation of abduction
Subject(s)
Humans , Male , Child, Preschool , Ophthalmoplegia/complications , Ophthalmoplegia , Nystagmus, Pathologic/complications , Ocular Motility Disorders/complications , Ocular Motility Disorders/diagnosis , Diagnosis, Differential , Ophthalmoplegia/congenital , Scoliosis/complications , Scoliosis/diagnosis , Visual Acuity/physiology , Spine , Skull , Ophthalmoplegia/genetics , Ophthalmoplegia/surgery , Oculomotor Nerve Injuries/genetics , Oculomotor Nerve Injuries/surgeryABSTRACT
CASE REPORT: The case is presented on a 4- year-old child with congenital esotropia, limitation of abduction, cross-fixation, and thoracolumbar scoliosis. Genetic testing of ROBO3 gene confirmed the diagnosis of horizontal gaze palsy and scoliosis (HGPSS) DISCUSSION: HGPPS is a rare congenital disorder characterised by absence of conjugate horizontal eye movements and progressive scoliosis developed in childhood and adolescence. We highlight this motility disorder as a part of the differential diagnosis of early childhood esotropia with cross- fixation and limitation of abduction.
